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Disease Ontology Browser
myopathy with extrapyramidal signs (DOID:0111335)
Alliance: disease page
Synonyms: MPXPS; proximal myopathy with extrapyramidal signs
Alt IDs: OMIM:615673, ORDO:401768
Definition: A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory